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ENThanatophoric Dysplasia, Type I (TD1)
Alias:
Thanatophoric Dysplasia
Thanatophoric Dysplasia Type 1
Thanatophoric Dwarfism
Td1
Thanatophoric Short Stature
Td
Thanatophoric Dwarfism Type 1
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
Platyspondylic Lethal Skeletal Dysplasia San Diego Type
Thanatophoric Dwarfism or Short Stature
Dysplasia, Thanatophoric, Type I
Thanatophoric Dwarfism Syndrome
Thanatophoric Dysplasia Type I
Td - [thanatophoric Dwarfism]
Thanatophoric Dysplasia 1
Dwarf, Thanatophoric
Thanatophoric Dwarf
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Thanatophoric Dysplasia, Type I, also known as thanatophoric dysplasia, is related to platyspondylic lethal skeletal dysplasia, torrance type and achondrogenesis. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Infectious disease and ERK Signaling. Affiliated tissues include temporal lobe and bone, and related phenotypes are macrocephaly and hypotonia
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MALACARDS
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